Prenatal screening

During pregnancy you can have your baby tested for a number of congenital disorders. This is called prenatal screening. You can opt for two types of test: prenatal screening for Down's, Edwards' and Patau's syndrome and testing for physical abnormalities (the 20-week ultrasound scan). You are free to decide whether or not to have these tests.

COUNSELLING INTERVIEW

During the first check-up, the midwife will ask if you would like to know more about prenatal screening. If you do, we will make an appointment for a consultation at the practice. We call this the counselling interview. During this meeting, we will discuss the various possibilities with you, after which you can make a choice.

You can find more information about prenatal screening:

SCREENING FOR DOWN'S, EDWARDS' AND PATAU'S SYNDROME

You can arrange for screening to determine whether your child is suspected of having Down's, Edwards' or Patau's syndrome. People with Down's syndrome have a mental handicap. It is impossible to predict in advance how they will develop. They are more likely to have health problems, but these are usually easy to treat. Children with Edwards' syndrome or Patau's syndrome usually die before or around the time of birth. They rarely live beyond the age of one year. These children have a serious mental handicap and serious physical defects.
There is one test to choose from for screening for Down's, Edwards' and Patau's syndrome: the NIPT (non-invasive prenatal test). This is a blood test on the pregnant woman.

EXAMINATION FOR PHYSICAL ABNORMALITIES

The 13-week ultrasound scan and the 20-week ultrasound scan (structural ultrasound) can be used to determine whether your child has any physical defects. The ultrasound focusses on the possible presence of spina bifida or an open skull. The ultrasound technician will also look at the development of your baby's organs. In most children, no physical abnormalities are found. The results of the 20-week ultrasound can be reassuring. But the results can also make you anxious and confront you with difficult choices. Would you know what to do with this knowledge? Sometimes abnormalities can be treated, such as certain heart defects. Sometimes they are not treatable. This is not always clear in advance. You must also remember that the 20-week ultrasound will not detect all abnormalities. You may be unjustly reassured.

FOLLOW-UP TESTING

The screening results can lead to difficult choices. If you receive an unfavorable result, you may be pregnant with a child with a condition. If so, you can opt for follow-up testing. You can receive help in making this choice. You are not obliged to undergo follow-up testing. The results of follow-up tests can again lead to difficult choices. You can also get help in such cases.

FOLLOW-UP TESTING AFTER THE NIPT

If the results of the NIPT test are abnormal, you can opt for follow-up testing. Follow-up testing consists of chorionic villus testing or amniocentesis.

FOLLOW-UP TESTING AFTER THE 13- and 20-WEEK ULTRASOUND

Follow-up testing consists of an extensive ultrasound scan (GUO) at a specialised hospital. Your child will then be examined in more detail. Sometimes you will also be offered an amniocentesis or blood test. With amniocentesis, there is a small risk of miscarriage.

13 week scan 20 week ultrasound NIPT